Linked Data
dbSNP Id:
rs1278786682
gnomAD v2:
17-29283243-T-G
gnomAD v3:
17-30956225-T-G
gnomAD v4:
17-30956225-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956225T>G , CM000679.2:g.30956225T>G | GRCh38 |
| NC_000017.10:g.29283243T>G , CM000679.1:g.29283243T>G | GRCh37 |
| NC_000017.9:g.26307369T>G | NCBI36 |
| NG_051975.1:g.39490T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.883-16T>G MANE Select | ENSP00000329468.3:n.883-16T>G | |
| ENST00000330889.7:c.883-16T>G | ENSP00000329468.3:n.883-16T>G | |
| ENST00000470962.1:n.303-16T>G | ||
| ENST00000480980.1:n.317-16T>G | ||
| ENST00000580525.5:c.901-16T>G | ENSP00000464121.1:n.901-16T>G | |
| ENST00000581285.5:c.799-16T>G | ENSP00000464155.1:n.799-16T>G | |
| ENST00000584828.5:c.252-16T>G | ||
| ENST00000584989.1:c.175-16T>G | ENSP00000462634.1:n.175-16T>G | |
| ENST00000585130.5:c.*482-16T>G | ENSP00000464120.1:n.*482-16T>G | |
| NM_018404.2:c.883-16T>G | NP_060874.1:n.883-16T>G | |
| XM_005258008.2:c.901-16T>G | XP_005258065.1:n.901-16T>G | |
| XM_005258011.2:c.838-16T>G | XP_005258068.1:n.838-16T>G | |
| XM_006721973.2:c.901-16T>G | XP_006722036.1:n.901-16T>G | |
| XM_011524993.1:c.898-16T>G | XP_011523295.1:n.898-16T>G | |
| XM_011524994.1:c.880-16T>G | XP_011523296.1:n.880-16T>G | |
| NM_001346712.1:c.901-16T>G | NP_001333641.1:n.901-16T>G | |
| NM_001346714.1:c.880-16T>G | NP_001333643.1:n.880-16T>G | |
| NM_001346716.1:c.883-16T>G | NP_001333645.1:n.883-16T>G | |
| NR_144488.1:n.1082-16T>G | ||
| XM_024450831.1:c.883-16T>G | XP_024306599.1:n.883-16T>G | |
| XM_024450832.1:c.898-16T>G | XP_024306600.1:n.898-16T>G | |
| XM_024450833.1:c.838-16T>G | XP_024306601.1:n.838-16T>G | |
| XM_024450834.1:c.901-16T>G | XP_024306602.1:n.901-16T>G | |
| XM_024450835.1:c.517-16T>G | XP_024306603.1:n.517-16T>G | |
| NM_018404.3:c.883-16T>G MANE Select | NP_060874.1:n.883-16T>G | |
| NM_001346712.2:c.901-16T>G | NP_001333641.1:n.901-16T>G | |
| NM_001346714.2:c.880-16T>G | NP_001333643.1:n.880-16T>G | |
| NM_001346716.2:c.883-16T>G | NP_001333645.1:n.883-16T>G | |
| NR_144488.2:n.873-16T>G |